Endocrine Abstracts

Introduction: Phosphatase and tensin homolog gene (PTEN) gene encodes a lipid phosphatase that plays a central role in cell-cycle processes. PTEN hamartoma tumour syndrome (PHTS), caused by the mutation of the PTEN gene, is a diverse multi-system disorder. PHTS is characterised by the hamartomatous growths, increased risk of breast, thyroid, and renal cancers. In terms of thyroid presentation of PHTS, there is up to 75% risk of multinodular goitre and the lifetime risk for the thyroid cancer is around 1 in 3. Papillary pathology is more common than follicular. Management pathways for the PHTS related thyroid nodules remain unclear.

Methods: We studied 10 patients with PHTS from the Imperial College London Endocrinology Clinic. The PHTS-related thyroid involvement was summarised. We focused on the thyroid nodule presentation, treatment, and surveillance.

Results: Of the recruited 10 patients, half of them were female with average age of 45. 1 patient had hypothyroidism at the time of the diagnosis. 9 patients showed thyroid changes on ultrasound scan (7 benign multinodular goitre, 1 autoimmune thyroiditis and 1 follicular thyroid carcinoma) and 3 of them received fine needle aspiration cytology (FNAC) for U3 nodules on the scan. 5 patients received partial/total thyroidectomy. Patients without thyroidectomy are receiving annual ultrasound surveillance. Other organ involvement included: macrocephaly 5 cases, lipoma 4 cases, colon polyps/adenomas 5 cases, breast nodules 4 cases and renal cysts/tumours 2 cases.

Conclusion: We followed the current guideline of annual thyroid ultrasounds starting at the time of PHTS diagnosis. However, whether these patients should have thyroid FNA is controversial, as follicular lesions can be difficult to distinguish via FNA. A more proactive approach to thyroidectomy may be required, considering the lifetime risk of thyroid cancer in PTHS patients.